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Newborn Screening for Severe Combined Immunodeficiency; The Wisconsin Experience (2008-2011).
- Source :
-
Journal of Clinical Immunology . Feb2012, Vol. 32 Issue 1, p82-88. 7p. - Publication Year :
- 2012
-
Abstract
- Severe combined immunodeficiency is a life-threatening primary immune deficiency characterized by low numbers of naïve T cells. Early diagnosis and treatment of this disease decreases mortality. In 2008, Wisconsin began newborn screening of infants for severe combined immunodeficiency and other forms of T-cell lymphopenia by the T-cell receptor excision circle assay. In total, 207,696 infants were screened. Seventy-two infants had an abnormal assay. T-cell numbers were normal in 38 infants, abnormal in 33 infants, and not performed in one infant, giving a positive predictive value for T-cell lymphopenia of any cause of 45.83% and a specificity of 99.98%. Five infants with severe combined immunodeficiency/severe T-cell lymphopenia requiring hematopoietic stem cell transplantation or other therapy were detected. In summary, the T-cell receptor excision circle assay is a sensitive and specific test to identify infants with severe combined immunodeficiency and severe T-cell lymphopenia that leads to life-saving therapies such as hematopoietic stem cell transplantation prior to the acquisition of severe infections. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 02719142
- Volume :
- 32
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- Journal of Clinical Immunology
- Publication Type :
- Academic Journal
- Accession number :
- 71508072
- Full Text :
- https://doi.org/10.1007/s10875-011-9609-4